A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa

Skin fragility disorder misdiagnosed as child abuse: a cautionary tale

“…Epidermolysis bullosa has traditionally been diagnosed by skin biopsy of a newly induced blister, which undergoes histology, immunofluorescence antigen mapping and transmission electron microscopy to elucidate the level of skin cleavage and identify deficiency of hemidesmosome proteins 3 . Increasingly, with better access to genetic testing, genotyping has become the preferred method of diagnosis, particularly as the biopsy technique is less reliable for diagnosis of milder epidermolysis bullosa subtypes 4 …”

Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand

“…To date, there has been no systematic prospective comparison of these diagnostic pathways; however, a preliminary retrospective evaluation suggests a number of advantages of molecular testing over IFM and TEM analysis. 18 Optimal strategies continue to evolve as techniques and costs change, and access to testing also depends on available resources. Our study did not collect data on the type of genetic or genomic testing undertaken (e.g.…”

“…This reflects historical lack of access to genomic testing, but with decreasing costs and increasing availability, this ratio is likely to change in the future. To date, there has been no systematic prospective comparison of these diagnostic pathways; however, a preliminary retrospective evaluation suggests a number of advantages of molecular testing over IFM and TEM analysis 18 . Optimal strategies continue to evolve as techniques and costs change, and access to testing also depends on available resources.…”

Epidermolysis bullosa hereditaria

“…Die Interpretation der elektronenmikroskopischen und Immunfluoreszenzuntersuchungsergebnisse erfordert große Erfahrung sowie fundiertes Spezialwissen der Ultrastruktur und der molekularen Bestandteile der dermoepidermalen Junktionszone der Haut. Ungefähr 30 % der Fälle bleiben nach dem Immunfluoreszenz-Mapping ungelöst [15,16].…”

“…Mit der Einführung des "next generation sequencing" (NGS) zeigen Studien inzwischen ausreichend Evidenz, dass NGS-basierte Multi-Gen-Panel-Diagnostik aller EB-Gene die molekulargenetische Ursache der EB in über 90 % der Fälle identifizieren kann [15,16,17,18,19].…”